Down Syndrome

Down syndrome, also known as Trisomy 21, is a neurodevelopmental condition that results from the presence of full or partial extra copy of chromosome 21. Similar to other populations (with or without a medical diagnosis), individuals with Down syndrome present a wide spectrum of physical, cognitive, and social characteristics and abilities. The goal of interventions and supports are to enable participation opportunities, maximizing independence and quality of life in those who have Down syndrome and their families.

Causes

Extra genetic material in Down syndrome is a result of random genetic alteration at conception.

Identification

Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing.  

Assessment

Assessments vary depending on one’s personal (health) needs, age, as well as healthcare providers’ practices, cultures and philosophies. 

Managements

Both assessment and management should be family-centred and require concerted and coordinated multi-disciplinary approaches. The resources above can help primary care physicians to provide preventative care whenever possible.

When assessing and managing medical issues in individuals, especially younger kids, with Down syndrome, it is important to approach those in a similar fashion to general population and balance the assumptions that certain abnormal values are just “part of Down syndrome.” 

Related Disorders

While the list of associated health conditions is extensive and some times adds to negativity of DS diagnosis, it does not mean that each given child or person will get all of them.

• Gross motor delay
  
• hearing and vision problems
  
• heart disorders, such as congenital heart disease
  
• thyroid problems, such as an underactive thyroid gland (hypothyroidism)
  
• celiac disease
  
• recurrent infections
  
• sleep apnea
  
• leukemia and other blood disorders
  
• ASD (often delayed dual diagnosis)
  
• Early Alzheimer